Department of Neurology, Technische Universität Dresden, 01307, Dresden, Germany.
Department of Neurology, Elblandkliniken, 01662, Meissen, Germany.
J Neurol. 2018 Jan;265(1):165-177. doi: 10.1007/s00415-017-8687-5. Epub 2017 Nov 28.
To develop specific diagnostic ultrasound (US) models for hereditary motor and sensory neuropathies (HMSN) in patients with primarily demyelinating or axonal polyneuropathies (PNP) according to standard nerve conduction studies (NCS) criteria.
Single-centre, examiner-blinded cross-sectional study in acquired PNP (consecutive recruitment strategy) and HMSN patients (convenience sample). Allocation into demyelinating or axonal phenotype via easily applicable NCS criteria. Assessment of single measurements by receiver-operating curve (ROC) analysis, development of diagnostic models based on the best measurement values in ROC.
Of 85 enrolled subjects, 53 (62%) had HMSN and 32 (38%) acquired PNPs, and 60 subjects (71%) had demyelinating and 25 (29%) axonal PNP. ROC area under the curve of means of the z-transformed 5 best measurement values was 0.87 for demyelinating and 0.99 for axonal HMSN. Diagnostic models showed high accuracy for both demyelinating (84% sensitivity, 86% specificity) and axonal HMSN (100% sensitivity and specificity). As a measure of variability of morphologic changes, standard deviations of z-transformed measurements were compared for acquired PNP and HMSN. In contrast to previous reports of more homogenous nerve enlargements in HMSN, standard deviations were higher in HMSN than in acquired PNP. Additionally, the performance of previously published models for the diagnosis of HMSN in demyelinating PNP was compared. Previously published models showed lower sensitivities (50-58%), but comparable specificities (91-100%) when applied to NCS-criteria defined demyelinating PNP group.
Diagnostic ultrasound models for HMSN in patients with demyelinating or axonal neuropathies show high accuracy and can contribute to differential diagnosis in clinical routine.
根据标准神经传导研究（NCS）标准，为主要表现为脱髓鞘或轴索性多发性神经病（PNP）的遗传性运动感觉神经病（HMSN）患者开发特定的诊断超声（US）模型。
在获得性 PNP（连续招募策略）和 HMSN 患者中进行单中心、检查者盲法横断面研究（方便样本）。通过易于应用的 NCS 标准将其分为脱髓鞘或轴索性表型。通过接收者操作曲线（ROC）分析评估单次测量值，根据 ROC 中最佳测量值开发诊断模型。
在纳入的 85 名受试者中，53 名（62%）患有 HMSN，32 名（38%）患有获得性 PNP，60 名（71%）患有脱髓鞘性 PNP，25 名（29%）患有轴索性 PNP。经 z 变换后 5 个最佳测量值平均值的 ROC 曲线下面积，脱髓鞘性 HMSN 为 0.87，轴索性 HMSN 为 0.99。诊断模型对脱髓鞘性（84%的敏感性，86%的特异性）和轴索性 HMSN（100%的敏感性和特异性）均具有很高的准确性。作为形态变化可变性的衡量标准，比较了获得性 PNP 和 HMSN 中 z 变换测量值的标准差。与 HMSN 中神经增粗更为一致的先前报道相反，HMSN 中的标准差高于获得性 PNP。此外，还比较了先前发表的用于诊断脱髓鞘性 PNP 中 HMSN 的模型的性能。当应用于 NCS 标准定义的脱髓鞘性 PNP 组时，先前发表的模型显示出较低的敏感性（50-58%），但特异性相当（91-100%）。
用于脱髓鞘或轴索性神经病患者 HMSN 的诊断超声模型具有很高的准确性，可有助于临床常规中的鉴别诊断。
